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Journal Abstract Search

387 related items for PubMed ID: 32823016

  • 1. Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.
    Raj S, Singh RG, Das P.
    Mutat Res; 2020; 821():111718. PubMed ID: 32823016
    [Abstract] [Full Text] [Related]

  • 2. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
    Ciantar N, Zahra G, Delicata J, Sammut F, Calleja-Agius J, Farrugia E, Said E.
    Eur J Med Genet; 2024 Jun; 69():104934. PubMed ID: 38537868
    [Abstract] [Full Text] [Related]

  • 3. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
    Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T.
    JAMA; 2022 Dec 27; 328(24):2412-2421. PubMed ID: 36573973
    [Abstract] [Full Text] [Related]

  • 4. Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
    Xu D, Ma Y, Gu X, Bian R, Lu Y, Xing X, Mei C.
    Kidney Blood Press Res; 2018 Dec 27; 43(2):297-309. PubMed ID: 29529603
    [Abstract] [Full Text] [Related]

  • 5. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
    Elisakova V, Merta M, Reiterova J, Baxova A, Kotlas J, Hirschfeldova K, Obeidova L, Tesar V, Stekrova J.
    BMC Nephrol; 2018 Jul 04; 19(1):163. PubMed ID: 29973168
    [Abstract] [Full Text] [Related]

  • 6. Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.
    Ranjzad F, Tara A, Basiri A, Aghdami N, Moghadasali R.
    Clin Lab; 2017 Jul 01; 63(7):1261-1267. PubMed ID: 28792715
    [Abstract] [Full Text] [Related]

  • 7. Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.
    Raj S, Singh RG, Das P.
    J Genet; 2017 Dec 01; 96(6):885-893. PubMed ID: 29321346
    [Abstract] [Full Text] [Related]

  • 8. Exome sequencing of Saudi Arabian patients with ADPKD.
    Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK.
    Ren Fail; 2019 Nov 01; 41(1):842-849. PubMed ID: 31488014
    [Abstract] [Full Text] [Related]

  • 9. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
    Abdelwahed M, Hilbert P, Ahmed A, Mahfoudh H, Bouomrani S, Dey M, Hachicha J, Kamoun H, Keskes-Ammar L, Belguith N.
    Gene; 2018 Sep 10; 671():28-35. PubMed ID: 29860066
    [Abstract] [Full Text] [Related]

  • 10. Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
    Zhang M, Liu S, Xia X, Cui Y, Li X.
    Nephrology (Carlton); 2019 May 10; 24(5):504-510. PubMed ID: 29633482
    [Abstract] [Full Text] [Related]

  • 11. Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.
    Orisio S, Noris M, Rigoldi M, Bresin E, Perico N, Trillini M, Donadelli R, Perna A, Benigni A, Remuzzi G.
    Nephron; 2024 May 10; 148(5):273-291. PubMed ID: 37231942
    [Abstract] [Full Text] [Related]

  • 12. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
    Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, Kurdi W, Alnemer M, Altaleb N, Ali W, Al-Numair N, Almejaish N, Sayer JA, Imtiaz F.
    Pediatr Nephrol; 2019 Sep 10; 34(9):1615-1623. PubMed ID: 31079206
    [Abstract] [Full Text] [Related]

  • 13. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
    Hoefele J, Mayer K, Scholz M, Klein HG.
    Nephrol Dial Transplant; 2011 Jul 10; 26(7):2181-8. PubMed ID: 21115670
    [Abstract] [Full Text] [Related]

  • 14. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
    Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R.
    BMC Med Genet; 2006 Jan 23; 7():6. PubMed ID: 16430766
    [Abstract] [Full Text] [Related]

  • 15. Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
    Suzuki Y, Katayama K, Saiki R, Hirabayashi Y, Murata T, Ishikawa E, Ito M, Dohi K.
    Genes (Basel); 2023 Feb 09; 14(2):. PubMed ID: 36833371
    [Abstract] [Full Text] [Related]

  • 16. Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
    Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC.
    J Hum Genet; 2019 May 09; 64(5):409-419. PubMed ID: 30816285
    [Abstract] [Full Text] [Related]

  • 17. Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
    He WB, Xiao WJ, Tan YQ, Zhao XM, Li W, Zhang QJ, Zhong CG, Li XR, Hu L, Lu GX, Lin G, Du J.
    BMC Med Genet; 2018 Oct 17; 19(1):186. PubMed ID: 30333007
    [Abstract] [Full Text] [Related]

  • 18. Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
    Choi R, Park HC, Lee K, Lee MG, Kim JW, Ki CS, Hwang YH, Ahn C.
    BMC Med Genet; 2014 Dec 10; 15():129. PubMed ID: 25491204
    [Abstract] [Full Text] [Related]

  • 19. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
    Audrézet MP, Corbiere C, Lebbah S, Morinière V, Broux F, Louillet F, Fischbach M, Zaloszyc A, Cloarec S, Merieau E, Baudouin V, Deschênes G, Roussey G, Maestri S, Visconti C, Boyer O, Abel C, Lahoche A, Randrianaivo H, Bessenay L, Mekahli D, Ouertani I, Decramer S, Ryckenwaert A, Cornec-Le Gall E, Salomon R, Ferec C, Heidet L.
    J Am Soc Nephrol; 2016 Mar 10; 27(3):722-9. PubMed ID: 26139440
    [Abstract] [Full Text] [Related]

  • 20. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.
    Kurashige M, Hanaoka K, Imamura M, Udagawa T, Kawaguchi Y, Hasegawa T, Hosoya T, Yokoo T, Maeda S.
    Clin Genet; 2015 Mar 10; 87(3):266-72. PubMed ID: 24611717
    [Abstract] [Full Text] [Related]

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